Publications:

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Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience

Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD

Publication Date: 2022-02

Variant appearance in text: PON3: G324D; rs139856535

PubMed Link: 35115730

Variant Present in the following documents:

• 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9

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Paraoxonase 3: Structure and Its Role in Pathophysiology of Coronary Artery Disease.

Biomolecules

Priyanka, Kumari K; Singh, Surjit S; Gill, Kirandip K

Publication Date: 2019-12-03

Variant appearance in text: PON3: G324D

PubMed Link: 31816846

Variant Present in the following documents:

• Main text
• biomolecules-09-00817.pdf

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Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics

Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS

Publication Date: 2019

Variant appearance in text: PON3: G324D; rs139856535

PubMed Link: 31681433

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 10

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Mitochondrial dysfunction and autism: comprehensive genetic analyses of children with autism and mtDNA deletion.

Behavioral And Brain Functions : Bbf

Varga, Noémi Ágnes NÁ; Pentelényi, Klára K; Balicza, Péter P; Gézsi, András A; Reményi, Viktória V; Hársfalvi, Vivien V; Bencsik, Renáta R; Illés, Anett A; Prekop, Csilla C; Molnár, Mária Judit MJ

Publication Date: 2018-02-20

Variant appearance in text: rs139856535

PubMed Link: 29458409

Variant Present in the following documents:

• Main text
• 12993_2018_Article_135.pdf

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Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Bujakowska, Kinga M KM; Fernandez-Godino, Rosario R; Place, Emily E; Consugar, Mark M; Navarro-Gomez, Daniel D; White, Joseph J; Bedoukian, Emma C EC; Zhu, Xiaosong X; Xie, Hongbo M HM; Gai, Xiaowu X; Leroy, Bart P BP; Pierce, Eric A EA

Publication Date: 2017-06

Variant appearance in text: PON3: 971G>A; G324D

PubMed Link: 27735924

Variant Present in the following documents:

• NIHMS819557-supplement-Supplementary___Appendix__online_only_material__etc__.pdf

View BVdb publication page

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The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine

Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM

Publication Date: 2016-07-26

Variant appearance in text: PON3: 971G>A; G324D; rs139856535

PubMed Link: 27460824

Variant Present in the following documents:

• 13073_2016_333_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications

Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD

Publication Date: 2016-07-05

Variant appearance in text: PON3: G324D

PubMed Link: 27377421

Variant Present in the following documents:

• ncomms12072-s6.xlsx, sheet 1

View BVdb publication page

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Paraoxonases-1, -2 and -3: What are their functions?

Chemico-Biological Interactions

Furlong, Clement E CE; Marsillach, Judit J; Jarvik, Gail P GP; Costa, Lucio G LG

Publication Date: 2016-11-25

Variant appearance in text: PON3: G324D

PubMed Link: 27238723

Variant Present in the following documents:

• Main text

View BVdb publication page

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The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research

Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR

Publication Date: 2014-12-16

Variant appearance in text: PON3: G324D; rs139856535

PubMed Link: 25352556

Variant Present in the following documents:

• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 10
• supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 22

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: PON3: G324D

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

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Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications

Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L

Publication Date: 2014

Variant appearance in text: PON3: G324D

PubMed Link: 24448499

Variant Present in the following documents:

• NIHMS551112-supplement-9.xlsx, sheet 1

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Paraoxonase (PON1 and PON3) Polymorphisms: Impact on Liver Expression and Atorvastatin-Lactone Hydrolysis.

Frontiers In Pharmacology

Riedmaier, Stephan S; Klein, Kathrin K; Winter, Stefan S; Hofmann, Ute U; Schwab, Matthias M; Zanger, Ulrich M UM

Publication Date: 2011

Variant appearance in text: PON3: G324D

PubMed Link: 21852972

Variant Present in the following documents:

• Main text
• fphar-02-00041.pdf

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Paraoxonase gene mutations in amyotrophic lateral sclerosis.

Annals Of Neurology

Ticozzi, Nicola N; LeClerc, Ashley Lyn AL; Keagle, Pamela J PJ; Glass, Jonathan D JD; Wills, Anne-Marie AM; van Blitterswijk, Marka M; Bosco, Daryl A DA; Rodriguez-Leyva, Ildefonso I; Gellera, Cinzia C; Ratti, Antonia A; Taroni, Franco F; McKenna-Yasek, Diane D; Sapp, Peter C PC; Silani, Vincenzo V; Furlong, Clement E CE; Brown, Robert H RH; Landers, John E JE

Publication Date: 2010-07

Variant appearance in text: PON3: 971G>A; G324D

PubMed Link: 20582942

Variant Present in the following documents:

• Main text

View BVdb publication page

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